ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive severe congenital neutropenia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.*97G>C rs565305947 0.00091
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00016
NM_138387.4(G6PC3):c.-164G>A rs886052985 0.00011
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) rs138557340 0.00011
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_138387.4(G6PC3):c.-178C>A rs767632217 0.00009
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00006
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) rs779584053 0.00006
NM_138387.4(G6PC3):c.-231A>G rs886052983 0.00005
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_138387.4(G6PC3):c.-155T>A rs756204705 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser) rs759963419 0.00001
NM_138387.4(G6PC3):c.-149G>A rs1567967341 0.00001
NM_138387.4(G6PC3):c.-48G>A rs746461072 0.00001
NM_006118.3(HAX1):c.-150A>T rs544123058
NM_006118.4(HAX1):c.*1C>G rs747961567
NM_006118.4(HAX1):c.*80C>T rs912619566
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro) rs761500862
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp) rs1684906279
NM_006118.4(HAX1):c.659A>T (p.Asp220Val) rs1684907371
NM_006118.4(HAX1):c.677G>A (p.Arg226His) rs750920845
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_138387.4(G6PC3):c.*234C>G rs763555878
NM_138387.4(G6PC3):c.*67G>A rs11544393
NM_138387.4(G6PC3):c.-162G>A rs536609615
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) rs34878178
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) rs886052986
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-9T>G rs759937203

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